Gene name
Slc12a3 (Ncc,Tsc)
Experiment(s)
For this entry:
S12A3_HUMAN (Slc12a3)
| Species | Homo sapiens |
|---|---|
| Localization | Apical plasma membrane |
| Reference |
Stuiver M,Lainez S,Will C,Terryn S,Günzel D,Debaix H,Sommer K,Kopplin K,Thumfart J,Kampik NB,Querfeld U,Willnow TE,Němec V,Wagner CA,Hoenderop JG,Devuyst O,Knoers NV,Bindels RJ,Meij IC,Müller D (2011) CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia., Am J Hum Genet, 88, 333-43. [PubMed] [DOI] |
| Evidence level | Antibody staining |
| Organ | Kidney |
| Cell | Distal tubules |
| Notes |
For ortholog entries:
Alignment and sequence features
Wheel: zoom in/out; drag: scroll left/right. Sequences and features are drawn in three lines. Bottom line: topology (red bar: cytoplasmic region; yellow bar: transmembrane region; transmembrane re-entrant loop; blue bar: extracellular region; black bar: signal peptide). Middle line: amino acid sequence (grey bar or one letter code). Top line: post translational modifications (Y: N-glycosylation site; Y: O-glycosylation site;P: phosphorylation site), intrinsically disordered regions (light green bar: IDR) and short linear motifs (light steel blue bar: ELM region).
CCTOP topology prediction
| Start | End | Localisation |
|---|---|---|
| 1 | 140 | Cytoplasmic |
| 141 | 160 | Membrane |
| 161 | 167 | Extracellular |
| 168 | 193 | Membrane |
| 194 | 214 | Cytoplasmic |
| 215 | 236 | Membrane |
| 237 | 259 | Extracellular |
| 260 | 279 | Membrane |
| 280 | 284 | Cytoplasmic |
| 285 | 306 | Membrane |
| 307 | 339 | Extracellular |
| 340 | 358 | Membrane |
| 359 | 374 | Cytoplasmic |
| 375 | 397 | Membrane |
| 398 | 455 | Extracellular |
| 456 | 475 | Membrane |
| 476 | 505 | Cytoplasmic |
| 506 | 525 | Membrane |
| 526 | 527 | Extracellular |
| 528 | 550 | Membrane |
| 551 | 566 | Cytoplasmic |
| 567 | 584 | Membrane |
| 585 | 586 | Extracellular |
| 587 | 605 | Membrane |
| 606 | 1021 | Cytoplasmic |
Phosphorylation
Family and domain data
| Database | Domain/Family name |
|---|---|
| InterPro | AA-permease/SLC12A_dom |
| InterPro | AA_permease_N |
| InterPro | SLC12_C |
| InterPro | SLC12A3 |
| InterPro | SLC12A_fam |
| Pfam | AA_permease |
| Pfam | AA_permease_N |
| Pfam | SLC12 |